RPL8 — 26 ClinVar variants
All ClinVar germline RPL8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →
26 Uncertain significance
Full RPL8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 23
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RPL8 p.Ala31Pro Uncertain significance Single submitter
- RPL8 p.Ala79Thr Uncertain significance Single submitter
- RPL8 p.Arg184Trp Uncertain significance Single submitter
- RPL8 p.Arg245Cys Uncertain significance Single submitter
- RPL8 p.Arg54Cys Uncertain significance Single submitter
- RPL8 p.Arg72Pro Uncertain significance Single submitter
- RPL8 p.Gly85Ser Uncertain significance Single submitter
- RPL8 p.Ile137Val Uncertain significance Single submitter
- RPL8 p.Ile82Leu Uncertain significance Single submitter
- RPL8 p.Leu116Val Uncertain significance Single submitter
- RPL8 p.Lys60Arg Uncertain significance Single submitter
- RPL8 p.Pro108Leu Uncertain significance Single submitter
- RPL8 p.Pro66Leu Uncertain significance Single submitter
- RPL8 p.Thr84Arg Uncertain significance Single submitter
- RPL8 p.Val45Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- RPL8 p.Arg198Gln Uncertain significance Single submitter
- RPL8 p.Asn97Ile Uncertain significance Single submitter
- RPL8 p.Asp65Asn Uncertain significance Single submitter
- RPL8 p.His38Arg Uncertain significance Single submitter
- RPL8 p.Lys46Gln Uncertain significance Single submitter
- RPL8 p.Met107Ile Uncertain significance Single submitter
- RPL8 p.Thr251Asn Uncertain significance Single submitter
- RPL8 p.Val61Leu Uncertain significance Single submitter
All RPL8 variants
Uncertain significance 26
- c.500-8_500-6delinsTCCCT Single submitter Diamond-Blackfan anemia
- p.Ala164Ser Single submitter
- p.Ala31Pro Single submitter ⚠
- p.Ala79Thr Single submitter ⚠
- p.Arg184Trp Single submitter ⚠
- p.Arg198Gln Single submitter ⚠
- p.Arg245Cys Single submitter ⚠
- p.Arg54Cys Single submitter ⚠
- p.Arg72Pro Single submitter ⚠
- p.Asn97Ile Single submitter ⚠
- p.Asp65Asn Single submitter ⚠
- p.Gly85Ser Single submitter ⚠
- p.His38Arg Single submitter ⚠
- p.Ile137Val Single submitter ⚠
- p.Ile82Leu Single submitter ⚠
- p.Leu116Val Single submitter ⚠
- p.Lys181Arg Single submitter
- p.Lys46Gln Single submitter ⚠
- p.Lys60Arg Single submitter ⚠
- p.Met107Ile Single submitter ⚠
- p.Pro108Leu Single submitter ⚠
- p.Pro66Leu Single submitter ⚠
- p.Thr251Asn Single submitter ⚠
- p.Thr84Arg Single submitter ⚠
- p.Val45Ile Single submitter ⚠
- p.Val61Leu Single submitter ⚠